Get access

Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy

Authors

  • Rafael Fabiano Machado Rosa,

    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    2. Postgraduation Program in Pathology, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Giovanni M. Travi,

    1. Pediatric Ophthalmology Department, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Fabiana Valiatti,

    1. Pediatric Ophthalmology Department, Complexo Hospitalar Santa Casa de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Paulo Ricardo Gazzola Zen,

    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    2. Postgraduation Program in Pathology, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Louise Lapagesse Pinto,

    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Andrea Kiss,

    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Carla Graziadio,

    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    Search for more papers by this author
  • Giorgio Adriano Paskulin

    Corresponding author
    1. Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    2. Postgraduation Program in Pathology, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil
    • Disciplina de Genética Clínica–FFFCMPA, Rua Sarmento Leite, 245/403, CEP: 90050-170, Porto Alegre–RS, Brazil
    Search for more papers by this author

Abstract

BACKGROUND: Poland syndrome has been attributed to a process of vascular disruption, and exposure to misoprostol at 6–8 weeks of gestation has been shown to produce defects attributed to vascular disruption. Herein we report the first case of a patient with Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina, whose mother used misoprostol during pregnancy. CASE: A White boy of 1 year and 7 months of age, whose mother used misoprostol during the second month of pregnancy, presented with bilateral epicanthal folds, aplasia of the sternocostal head of the pectoralis major muscle with a hypoplastic nipple on the right side, and asymmetry between the upper limbs. The results of an angiotomographic study showed the presence of an aberrant right subclavian artery. Ultrasonographic evaluation showed turbulence and a high peak in the diastolic velocity in both carotid arteries, suggesting stenosis. Ophthalmologic assessment disclosed an intense bilateral tortuosity of the retinal blood vessels, with arterialnarrowing and rarefaction of the retinal pigment epithelium. CONCLUSIONS: This case suggests that the mechanism of vascular disruption of misoprostol could be related to the aberrant subclavian artery and the observed Poland syndrome. His retinal findings are different from those in cases described thus far in the literature, and this pattern of anomaly has never been associated with a gestational exposure to misoprostol. The possibility of a relationship of the aberrant right subclavian artery and the pattern of blood flow verified in the carotid arteries with the eye fundus abnormalities could be causally related or simply coincidental. Birth Defects Research (Part A), 2007. © 2007 Wiley-Liss, Inc.

Get access to the full text of this article

Ancillary